J Med Genet 30:112-116 doi:10.1136/jmg.30.2.112
  • Research Article

On the genetics of mandibular prognathism: analysis of large European noble families.

  1. G Wolff,
  2. T F Wienker,
  3. H Sander
  1. Institut für Humangenetik und Anthropologie, University of Freiburg, Germany.


      Mandibular prognathism is assumed to be a polygenic trait in the vast majority of cases. In a few families, this phenotype and perhaps a syndrome with a broader spectrum of facial anomalies seems to be determined by a single dominant gene of very low frequency (McKusick No *176700). The phenotype is known to have occurred independently in several European noble families. We constructed a pedigree comprising 13 of these families with 409 members in 23 generations in which mandibular prognathism has been segregating. Obviously, the presumed dominant gene is not fully penetrant in the heterozygous state. Pedigree analysis using the Elston-Stewart algorithm yields a maximum likelihood estimate (MLE) of p = 0.955 (SE 0.038) of the penetrance parameter.